靶标：
TBX1
产品别名：
CAFS； CATCH22； CTHM； DGCR； DGS； DORV； TBX1C； TGA； VCF； VCFS； TBX1； T-box transcription factor 1； T-box transcription factor 1； T-box transcription factor TBX1； T-box 1 transcription factor C； Testis-specific T-box protein； brachyury； 先心病相关蛋白TBX1；
背景信息：
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008],
